Results 261 to 270 of about 10,935,683 (291)
Some of the next articles are maybe not open access.
Muscle involvement in Dent disease 2
Pediatric Nephrology, 2014Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only without genetic tests.
Eujin, Park +11 more
openaire +2 more sources
Dent’s disease: clinical features and molecular basis
Pediatric Nephrology, 2010Dent's disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability.
Félix, Claverie-Martín +2 more
openaire +2 more sources
Dent disease patient genome sequencing
2014one sample whole genome, average depth 30X.
openaire +1 more source
The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype
Kidney International Reports, 2023John C Lieske, Franca Anglani
exaly
Hematology and oncology clinical care during the coronavirus disease 2019 pandemic
Ca-A Cancer Journal for Clinicians, 2020Manish A Shah +2 more
exaly